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    CKMT2 creatine kinase, mitochondrial 2 [ Homo sapiens (human) ]

    Gene ID: 1160, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CKMT2provided by HGNC
    Official Full Name
    creatine kinase, mitochondrial 2provided by HGNC
    Primary source
    HGNC:HGNC:1996
    See related
    Ensembl:ENSG00000131730 MIM:123295; AllianceGenome:HGNC:1996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMTCK
    Summary
    Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 295.9) and prostate (RPKM 10.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CKMT2 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (81233322..81266398)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81717903..81750979)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80529141..80562217)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:80252674-80253194 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80256285-80257006 Neighboring gene Sharpr-MPRA regulatory region 14075 Neighboring gene Ras protein specific guanine nucleotide releasing factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80487900-80488408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80488409-80488915 Neighboring gene uncharacterized LOC124901017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22730 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:80564272-80565471 Neighboring gene CKMT2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80565548-80566100 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80566101-80566651 Neighboring gene MPRA-validated peak5313 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597135-80597924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597925-80598714 Neighboring gene zinc finger CCHC-type containing 9 Neighboring gene acyl-CoA thioesterase 12 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:80728863-80729548 Neighboring gene NANOG hESC enhancer GRCh37_chr5:80746651-80747152 Neighboring gene single stranded DNA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80983594-80984094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16146

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased mitochondrial creatine kinase 2 impairs skeletal muscle mitochondrial function independently of insulin in type 2 diabetes.
      Title: Decreased mitochondrial creatine kinase 2 impairs skeletal muscle mitochondrial function independently of insulin in type 2 diabetes.
    2. Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis.
      Title: Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis.
    3. These findings support increased CK activity as protection against ischaemia-reperfusion injury, in particular, protection via CKMT2 in a cardiac-relevant cell line, which merits further investigation in vivo.
      Title: Increasing creatine kinase activity protects against hypoxia / reoxygenation injury but not against anthracycline toxicity in vitro.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. three C-terminal lysines determine high affinity sMtCK/cardiolipin interaction and its effects on MtCK structure, whereas low level binding and some effect on membrane fluidity depend on other structural components
      Title: C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase.
    6. CK2alpha has a role in progression of acute myeloid leukemia
      Title: Protein kinase CK2alpha as an unfavorable prognostic marker and novel therapeutic target in acute myeloid leukemia.
    7. After the training period, intracellular energetic units had a higher control of mitochondrial respiration by creatine linked to a more efficient functional coupling adenine nucleotide translocase-mitochondrial creatine kinase.
      Title: Functional coupling of adenine nucleotide translocase and mitochondrial creatine kinase is enhanced after exercise training in lung transplant skeletal muscle.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables creatine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphocreatine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    creatine kinase S-type, mitochondrial
    Names
    S-MtCK
    basic-type mitochondrial creatine kinase
    creatine kinase, mitochondrial 2 (sarcomeric)
    mib-CK
    sarcomeric mitochondrial creatine kinase
    NP_001093205.1
    NP_001093206.1
    NP_001816.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001099735.2 → NP_001093205.1  creatine kinase S-type, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001093205.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AW300490, BC029140, DB479765
      Consensus CDS
      CCDS4053.1
      UniProtKB/Swiss-Prot
      P17540, Q6ICS8, Q8N1E1
      UniProtKB/TrEMBL
      B2R8A3
      Related
      ENSP00000254035.4, ENST00000254035.9
      Conserved Domains (1) summary
      cd00716
      Location:50 → 407
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

    2. NM_001099736.2 → NP_001093206.1  creatine kinase S-type, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001093206.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AW300490, BC029140, DC308656
      Consensus CDS
      CCDS4053.1
      UniProtKB/Swiss-Prot
      P17540, Q6ICS8, Q8N1E1
      UniProtKB/TrEMBL
      B2R8A3
      Related
      ENSP00000410289.1, ENST00000437669.5
      Conserved Domains (1) summary
      cd00716
      Location:50 → 407
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

    3. NM_001825.3 → NP_001816.2  creatine kinase S-type, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001816.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AW300490, BC029140, DA826840, DB479765
      Consensus CDS
      CCDS4053.1
      UniProtKB/Swiss-Prot
      P17540, Q6ICS8, Q8N1E1
      UniProtKB/TrEMBL
      B2R8A3
      Related
      ENSP00000404203.2, ENST00000424301.6
      Conserved Domains (1) summary
      cd00716
      Location:50 → 407
      creatine_kinase_like; Phosphagen (guanidino) kinases such as creatine kinase and similar enzymes

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      81233322..81266398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      81717903..81750979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17540.2 GenPept UniProtKB/Swiss-Prot:P17540

    Gene LinkOut

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